Hereditary rimmed vacuole myopathy showing interstitial amyloid deposition in muscle tissue
✍ Scribed by Yukiko Kojima; Kenji Sakai; Chiho Ishida; Tomoya Asaka; Tsuyoshi Hamaguchi; Ichiro Nozaki; Kazuhiro Fukushima; Ayako Tsuchiya; Fuyuki Kametani; Masahide Yazaki; Soichi Okino; Masahito Yamada
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 292 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0148-639X
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✦ Synopsis
Abstract
We describe a consanguineous family that had progressive myopathy with rimmed vacuole (RV) formation and amyloid deposition. Patient 1 is a 71‐year‐old woman with muscle atrophy in the lumbar girdle and lower extremities. Patient 2 is a 40‐year‐old man (the son of Patient 1) with fatty changes in the biceps femoris muscles. Muscle biopsies revealed myopathic and neurogenic degeneration with RV, necrotic fibers, and interstitial amyloid deposition. Amyloid deposition was detected only in the muscle tissue. Muscle Nerve, 2009